Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02090:Fdx2'

279427

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fdx2

Ensembl Gene

ENSMUSG00000079677

Gene Name

ferredoxin 2

Synonyms

B230118G17Rik, Fdx1l

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02090

Quality Score

Status

Chromosome

Chromosomal Location

20978808-20984827 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20984766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 13 (V13F)

Ref Sequence

ENSEMBL: ENSMUSP00000010348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010348] [ENSMUST00000115487] [ENSMUST00000213826] [ENSMUST00000217359]

AlphaFold

Q9CPW2

Predicted Effect

probably benign
Transcript: ENSMUST00000010348
AA Change: V13F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000010348
Gene: ENSMUSG00000079677
AA Change: V13F

Domain	Start	End	E-Value	Type
Pfam:Fer2	64	147	5.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115487

SMART Domains

Protein: ENSMUSP00000111150
Gene: ENSMUSG00000010205

Domain	Start	End	E-Value	Type
low complexity region	15	26	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
RRM	60	126	1.53e-10	SMART
RRM	133	206	5.66e-14	SMART
RRM	222	295	1.15e-5	SMART
low complexity region	307	318	N/A	INTRINSIC
low complexity region	324	339	N/A	INTRINSIC
low complexity region	343	351	N/A	INTRINSIC
low complexity region	360	396	N/A	INTRINSIC
low complexity region	419	454	N/A	INTRINSIC
low complexity region	460	474	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC
low complexity region	533	543	N/A	INTRINSIC
low complexity region	547	565	N/A	INTRINSIC
low complexity region	637	643	N/A	INTRINSIC
low complexity region	675	699	N/A	INTRINSIC
low complexity region	713	722	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183526

Predicted Effect

probably benign
Transcript: ENSMUST00000213826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217150

Predicted Effect

probably benign
Transcript: ENSMUST00000217359

Predicted Effect

probably benign
Transcript: ENSMUST00000217282

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	A	G	X: 162,968,701 (GRCm39)	T482A	probably damaging	Het
Adh1	T	C	3: 137,988,546 (GRCm39)	I173T	possibly damaging	Het
Apoa1	T	C	9: 46,140,548 (GRCm39)	S60P	possibly damaging	Het
Blnk	A	G	19: 40,922,929 (GRCm39)	V396A	probably benign	Het
Borcs8	A	G	8: 70,619,030 (GRCm39)	D204G	probably damaging	Het
Calhm5	G	A	10: 33,972,261 (GRCm39)	P58L	probably damaging	Het
Cbfa2t2	A	G	2: 154,373,336 (GRCm39)		probably benign	Het
Cdkal1	T	G	13: 29,701,493 (GRCm39)	I319L	probably benign	Het
Celsr1	T	A	15: 85,791,922 (GRCm39)	T2560S	possibly damaging	Het
Chd8	A	G	14: 52,464,691 (GRCm39)		probably null	Het
Cyp4f39	T	C	17: 32,689,932 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,866,876 (GRCm39)	N2265S	probably damaging	Het
Dnah5	C	T	15: 28,240,187 (GRCm39)		probably benign	Het
Epgn	G	A	5: 91,181,816 (GRCm39)	G133E	probably damaging	Het
Gabarapl2	A	G	8: 112,667,831 (GRCm39)	Y25C	probably damaging	Het
Gigyf1	G	A	5: 137,523,826 (GRCm39)		probably null	Het
Gm6040	G	A	8: 21,407,169 (GRCm39)		probably benign	Het
Gm8229	T	C	14: 44,604,054 (GRCm39)	L81P	unknown	Het
Gstz1	A	G	12: 87,210,528 (GRCm39)	E137G	probably benign	Het
Htra1	T	C	7: 130,538,108 (GRCm39)	V36A	probably benign	Het
Ifnlr1	T	C	4: 135,432,578 (GRCm39)	V338A	probably benign	Het
Igsf8	A	G	1: 172,140,156 (GRCm39)		probably benign	Het
Khdc1a	T	A	1: 21,421,212 (GRCm39)	F132L	probably benign	Het
Kifc3	G	A	8: 95,829,108 (GRCm39)	S561L	probably damaging	Het
Mpi	T	C	9: 57,457,936 (GRCm39)	T89A	probably benign	Het
Ncor2	A	T	5: 125,111,467 (GRCm39)	M1281K	probably damaging	Het
Or4c117	T	C	2: 88,956,021 (GRCm39)	N18S	probably benign	Het
Or4k49	G	T	2: 111,495,333 (GRCm39)	C254F	probably damaging	Het
Or6c213	T	A	10: 129,574,181 (GRCm39)	I202L	probably benign	Het
Or6c66b	T	C	10: 129,377,176 (GRCm39)	Y257H	probably damaging	Het
Otog	G	A	7: 45,949,571 (GRCm39)	G2403D	probably damaging	Het
Pdgfb	C	A	15: 79,898,184 (GRCm39)	A6S	probably benign	Het
Pfkm	T	C	15: 98,021,121 (GRCm39)		probably null	Het
Plcb4	A	G	2: 135,789,041 (GRCm39)	M274V	probably benign	Het
Ppm1m	A	G	9: 106,074,001 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,304,041 (GRCm39)	D458G	possibly damaging	Het
Sertad3	C	T	7: 27,175,950 (GRCm39)	S128F	probably benign	Het
Sgo2b	A	T	8: 64,380,123 (GRCm39)	L903Q	probably damaging	Het
Slc15a5	C	T	6: 138,020,598 (GRCm39)	R245H	probably benign	Het
Slc24a5	A	T	2: 124,910,218 (GRCm39)	T40S	probably benign	Het
Smchd1	T	C	17: 71,738,248 (GRCm39)	N539S	possibly damaging	Het
Tlr11	A	G	14: 50,600,489 (GRCm39)	D825G	probably damaging	Het
Top3b	T	G	16: 16,709,334 (GRCm39)	V674G	possibly damaging	Het
Urb2	G	A	8: 124,754,976 (GRCm39)	V228I	probably benign	Het
Usp24	C	T	4: 106,268,623 (GRCm39)	A2061V	possibly damaging	Het
Wdr72	C	A	9: 74,062,212 (GRCm39)	H453N	possibly damaging	Het
Xkr9	T	C	1: 13,771,600 (GRCm39)	M372T	probably damaging	Het
Zc3h12d	T	G	10: 7,743,096 (GRCm39)	S289A	probably benign	Het
Zfp607b	A	T	7: 27,398,140 (GRCm39)	M75L	possibly damaging	Het

Other mutations in Fdx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Fdx2	APN	9	20,984,558 (GRCm39)	critical splice donor site	probably null
IGL02207:Fdx2	APN	9	20,979,415 (GRCm39)	critical splice acceptor site	probably null
R1434:Fdx2	UTSW	9	20,984,694 (GRCm39)	missense	probably benign
R2093:Fdx2	UTSW	9	20,984,720 (GRCm39)	missense	probably benign	0.05
R4818:Fdx2	UTSW	9	20,979,160 (GRCm39)	missense	possibly damaging	0.95
R5534:Fdx2	UTSW	9	20,984,562 (GRCm39)	missense	probably benign	0.01
R5776:Fdx2	UTSW	9	20,984,778 (GRCm39)	missense	possibly damaging	0.59
R7886:Fdx2	UTSW	9	20,984,623 (GRCm39)	splice site	probably null
R9593:Fdx2	UTSW	9	20,979,097 (GRCm39)	missense	probably damaging	1.00
R9663:Fdx2	UTSW	9	20,984,717 (GRCm39)	missense	probably benign
Z1176:Fdx2	UTSW	9	20,984,788 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16